ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825750430
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1984899
ClinVar RCV Id:
RCV002775735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Val1345Ile
CA1706899
NM_001130977.2:c.4033G>A